Intractable Rare Dis Res. 2022;11(3):143-148. (DOI: 10.5582/irdr.2022.01065)

Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review

Machida O, Yamamoto Shimojima K, Shiihara T, Akamine S, Kira R, Hasegawa Y, Nishi E, Okamoto N, Nagata S, Yamamoto T


Interstitial microdeletions in the proximal region of the long arm of chromosome 6 are rare. Herein we have reported 12 patients with developmental delays associated with interstitial microdeletions in 6q ranging from q12 to q22. The microdeletions were detected by chromosomal microarray testing. To confirm the clinical significance of these deletions, genotype-phenotype correlation analysis was performed using genetic and predicted loss-of-function data. SIM1 was recognized as the gene responsible for developmental delay, particularly in Prader-Willi syndrome-like phenotypes. Other genes possibly related to developmental delay were ZNF292, PHIP, KCNQ5, and NUS1. To further establish the correlation between the genotype and phenotype, more patient information is required.

KEYWORDS: chromosomal microarray testing, 6q interstitial deletions, developmental delay

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